Hi there,
I wish to annotate genomic variants with some kind of information related to protein conserved domains and (specially) functional domains to predict their potential role in human disease.
I was googling on the USCS genome browser and I found some tables that I could use with ANNOVAR or VEP (CCDS, Conserved,etc.). Do you know out there any other resource?
Thanks a lot!
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written
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luisantome •
dbNSFP_variant database contains a lot of annotations for all possible non-synonymous SNPs. The annotations include annotated protein structural/functional domains "Interpro_domain"
dbNSFP can be downloaded here (~7.5GB): ftp://ftp.scripps.edu/incoming/asu/dbNSFPv2.9.zip
But perhaps have a look at the README first to see what is included: https://drive.google.com/file/d/0B60wROKy6OqcLXhCMEFaWE52X0U/view
thank you so much rbagnall for your comment. that's exactly what I was looking for
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written
by
luisantome •
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